Results 221 to 230 of about 23,484 (271)

Genomic Analysis of Adaptability and Genetic Structure of Jabal Akhdar Goats: Evidence of Positive Selection in an Indigenous Omani Breed. [PDF]

Biology (Basel)
Mohammad Z, Bahbahani H, Alfoudari A, Al Kharousi K, Al Hamrashdi AA, Al Toobi AG, Al Abri M.   +6 more
europepmc   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Development and Application of a 40 K Liquid Capture Chip for Beef Cattle. [PDF]

Animals (Basel)
Liu Q, Shi L, Zhang P, Yu B, Liu C, Xiang M, Li S, Liu L, Cheng L, Chen H.   +9 more
europepmc   +1 more source

Efficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis

Muscle &Nerve, EarlyView.
Pretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Viktor Chanchykov, Sharon Iype, Marbella Quinonez, Fenfen Wu, Stephen Cannon   +4 more
wiley   +1 more source

Whole-Genome Resequencing Provides Novel Insights Into the Genetic Diversity, Population Structure, and Patterns of Runs of Homozygosity in Mud Crab (<i>Scylla paramamosain</i>). [PDF]

Evol Appl
Zhou X, Ouyang M, Zhang Y, Ikhwanuddin M, Ma H, Ye S.   +5 more
europepmc   +1 more source

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing

The Journal of Pathology, EarlyView.
Abstract Netherton syndrome (NS) is a rare, severe, and often life‐threatening disease for which current therapeutic approaches are limited and show variable effectiveness. NS is characterized by excessive epidermal desquamation that results in a highly defective epidermal barrier, constitutive skin inflammation, allergies, and hair abnormalities.
Eleni Zingkou, Evangelos Bisyris, Georgios Pampalakis, Georgia Sotiropoulou   +3 more
wiley   +1 more source

Genomic Architecture of Inbreeding Depression Associated With Hatching Failure in an Endangered Parrot. [PDF]

Mol Ecol
Foster Y, Grosser S, Foster BJ, Dussex N, Stubbs A, Dutoit L, Atkinson T, Robertson F, Dodds KG, Brauning R, Jacobs JME, McEwan JC, Robertson BC.   +12 more
europepmc   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Genetic diversity and runs of homozygosity in Rendena cattle

, 2021
Somenzi, E., Franceschi, N., Barbato, M., Colli, N., Partel E., Komjanc, M., Achilli, A., Hauffe, H. C., Ajmone Marsan, P.   +8 more
openaire   +3 more sources

Chromosome-level genome of the European hamster (Cricetus cricetus) and its genome-wide population structure across Western Europe. [PDF]

BMC Biol
Reiners TE, Prochotta D, Schell T, Greve C, Hamadou AB, Gerheim C, Ortega JM, Nowak C, Nebenführ M, Janke A.   +9 more
europepmc   +1 more source